Novel isodicentric chromosome 18 in an abnormal infant with a mosaic karyotype [46, XY/46,XY, -18,+ dic(18)(q12.2)]
- 1 June 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 36 (2) , 247-250
- https://doi.org/10.1002/ajmg.1320360221
Abstract
A previously unreported isodicentric chromosome 18 was discovered in an abnormal infant boy whose mosaic karyotype was 46, XY/46,XY,–18, + idic(18)(q12.2). His constellation of congenital anomalies was typical of the 18q‐syndrome. The clinical and cytogentic characteristics of this patient are reported, and the literature concerning isochromosomes of 18 is reviewed.Keywords
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